This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
COSMIC:
COSN19623444
COSN20280309
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67361485 (NFE)
Genomes Max Group AF
0.66847576 (NFE)
Exomes Max Group AF
0.67365164 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23946123C>T , CM000680.2:g.23946123C>T | GRCh38 |
| NC_000018.9:g.21526087C>T , CM000680.1:g.21526087C>T | GRCh37 |
| NC_000018.8:g.19780085C>T | NCBI36 |
| NG_007853.2:g.261526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.4384-21C>T MANE Plus Clinical | ENSP00000269217.5:n.4384-21C>T | |
| ENST00000313654.14:c.9211-21C>T MANE Select | ENSP00000324532.8:n.9211-21C>T | |
| ENST00000649721.1:c.5806-21C>T | ENSP00000497885.1:n.5806-21C>T | |
| ENST00000269217.10:c.4384-21C>T | ENSP00000269217.5:n.4384-21C>T | |
| ENST00000313654.13:c.9211-21C>T | ENSP00000324532.8:n.9211-21C>T | |
| ENST00000399516.7:c.9043-21C>T | ENSP00000382432.2:n.9043-21C>T | |
| ENST00000587184.5:c.4216-21C>T | ENSP00000466557.1:n.4216-21C>T | |
| ENST00000588770.5:n.3789-21C>T | ||
| NM_000227.4:c.4384-21C>T | NP_000218.3:n.4384-21C>T | |
| NM_001127717.2:c.9043-21C>T | NP_001121189.2:n.9043-21C>T | |
| NM_001127718.2:c.4216-21C>T | NP_001121190.2:n.4216-21C>T | |
| NM_198129.2:c.9211-21C>T | NP_937762.2:n.9211-21C>T | |
| XM_011525978.1:c.9238-21C>T | XP_011524280.1:n.9238-21C>T | |
| XM_011525979.1:c.9229-21C>T | XP_011524281.1:n.9229-21C>T | |
| XM_011525980.1:c.9220-21C>T | XP_011524282.1:n.9220-21C>T | |
| XM_011525981.1:c.9106-21C>T | XP_011524283.1:n.9106-21C>T | |
| XM_011525982.1:c.8941-21C>T | XP_011524284.1:n.8941-21C>T | |
| XM_011525978.2:c.9238-21C>T | XP_011524280.1:n.9238-21C>T | |
| XM_011525979.2:c.9229-21C>T | XP_011524281.1:n.9229-21C>T | |
| XM_011525980.2:c.9220-21C>T | XP_011524282.1:n.9220-21C>T | |
| XM_011525981.2:c.9106-21C>T | XP_011524283.1:n.9106-21C>T | |
| XM_011525982.2:c.8941-21C>T | XP_011524284.1:n.8941-21C>T | |
| XM_017025743.1:c.7090-21C>T | XP_016881232.1:n.7090-21C>T | |
| XM_017025744.1:c.4780-21C>T | XP_016881233.1:n.4780-21C>T | |
| XR_001753199.1:n.9479-21C>T | ||
| NM_000227.5:c.4384-21C>T | NP_000218.3:n.4384-21C>T | |
| NM_001127717.3:c.9043-21C>T | NP_001121189.2:n.9043-21C>T | |
| NM_001127718.3:c.4216-21C>T | NP_001121190.2:n.4216-21C>T | |
| NM_198129.3:c.9211-21C>T | NP_937762.2:n.9211-21C>T | |
| NM_000227.6:c.4384-21C>T MANE Plus Clinical | NP_000218.3:n.4384-21C>T | |
| NM_001127717.4:c.9043-21C>T | NP_001121189.2:n.9043-21C>T | |
| NM_001127718.4:c.4216-21C>T | NP_001121190.2:n.4216-21C>T | |
| NM_198129.4:c.9211-21C>T MANE Select | NP_937762.2:n.9211-21C>T |